Varaico: Literature-Extracted Genetic Variants

GATA6

404 papers

RefSeq Summary

This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. ...

Pfam Domains

GATA-Naa 147–378UCSCGATA-type transcription activator, N-terminal

GATAaa 390–424UCSCGATA zinc finger

GATAaa 444–478UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 6

HGNC Previous Name

GATA-binding protein 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_005257.6

p.G245R

c.733G>A

Surrounding Variants

6 papers

NM_005257.6

p.G245R

c.733G>C

1 paper

NM_005257.6

p.A246V

c.737C>T

2 papers

NM_005257.6

p.G248delFs

c.744delG

1 paper

NM_005257.6

p.G244_A246insFs

c.730_737dup8

1 paper

NM_005257.6

p.A242S

c.724G>T

2 papers

NM_005257.6

p.G248E

c.743G>A

4 papers

NM_005257.6

p.P249fs

c.745_746fs

2 papers

NM_005257.6

p.G240D

c.719G>A

1 paper

NM_005257.6

p.G250fs

c.748_749fs

1 paper

NM_005257.6

p.G250D

c.749G>A

2 papers

NM_005257.6

p.G250V

c.749G>T

1 paper

NM_005257.6

p.G250G

c.750C>T